Detection of cell-free tumor DNA in cerebrospinal fluid as a diagnostic biomarker for leptomeningeal melanoma metastasis: A case series.

biomarker brain metastases cell‐free tumor DNA cerebrospinal fluid leptomeningeal metastasis

Journal

Pigment cell & melanoma research
ISSN: 1755-148X
Titre abrégé: Pigment Cell Melanoma Res
Pays: England
ID NLM: 101318927

Informations de publication

Date de publication:
11 Jul 2024
Historique:
revised: 19 06 2024
received: 02 04 2024
accepted: 01 07 2024
medline: 11 7 2024
pubmed: 11 7 2024
entrez: 11 7 2024
Statut: aheadofprint

Résumé

Leptomeningeal melanoma metastases (LMM) are associated with poor survival. Diagnosis is based on clinical presentation, brain MRI and cerebrospinal fluid (CSF) analysis. Inconclusive findings at initial presentation can delay treatment. In this single-center case series, detection of BRAF

Identifiants

pubmed: 38990845
doi: 10.1111/pcmr.13186
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Références

Ballester, L. Y., Glitza Oliva, I. C., Douse, D. Y., Chen, M. M., Lan, C., Haydu, L. E., Huse, J. T., Roy‐Chowdhuri, S., Luthra, R., Wistuba, I. I., Davies, M. A., & Wistuba, I. I. (2018). Evaluating circulating tumor DNA from the cerebrospinal fluid of patients with melanoma and leptomeningeal disease. Journal of Neuropathology & Experimental Neurology, 77(7), 628–635.
Bisschop, C., Ter Elst, A., Bosman, L. J., Platteel, I., Jalving, M., van den Berg, A., Diepstra, A., van Hemel, B., Gfh, D., Gap, H., Schuuring, E., & Hospers, G. A. (2018). Rapid BRAF mutation tests in patients with advanced melanoma: Comparison of immunohistochemistry, droplet digital PCR, and the Idylla mutation platform. Melanoma Research, 28(2), 96–104.
Cohen, J. V., Tawbi, H., Margolin, K. A., Amravadi, R., Bosenberg, M., Brastianos, P. K., Chiang, V. L., de Groot, J., Glitza, I. C., Herlyn, M., Holmen, S. L., Jilaveanu, L. B., Lassman, A., Moschos, S., Postow, M. A., Thomas, R., Tsiouris, J. A., Wen, P., White, R. M., … Kluger, H. M. (2016). Melanoma central nervous system metastases: Current approaches, challenges, and opportunities. Pigment Cell & Melanoma Research, 29(6), 627–642.
De Mattos‐Arruda, L., Mayor, R., Ng, C. K., Weigelt, B., Martínez‐Ricarte, F., Torrejon, D., Oliveira, M., Arias, A., Raventos, C., Tang, J., Guerini‐Rocco, E., Martínez‐Sáez, E., Lois, S., Marín, O., de la Cruz, X., Piscuoglio, S., Towers, R., Vivancos, A., Peg, V., … Seoane, J. (2015). Cerebrospinal fluid‐derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma. Nature Communications, 6(1), 8839.
Fitzpatrick, A., Iravani, M., Mills, A., Childs, L., Alaguthurai, T., Clifford, A., Garcia‐Murillas, I., Van Laere, S., Dirix, L., Harries, M., Okines, A., Turner, N. C., Haider, S., Anj, T., & Isacke, C. M. (2022). Assessing CSF ctDNA to improve diagnostic accuracy and therapeutic monitoring in breast cancer leptomeningeal metastasis. Clinical Cancer Research, 28(6), 1180–1191.
Geukes Foppen, M., Brandsma, D., Blank, C. U., van Thienen, J. V., Haanen, J. B., & Boogerd, W. (2016). Targeted treatment and immunotherapy in leptomeningeal metastases from melanoma. Annals of Oncology, 27(6), 1138–1142.
Glitza, I. C., Smalley, K. S., Brastianos, P. K., Davies, M. A., McCutcheon, I., Liu, J. K., Ahmed, K. A., Arrington, J. A., Evernden, B. R., Smalley, I., Eroglu, Z., Khushalani, N., Margolin, K., Kluger, H., Atkins, M. B., Tawbi, H., Boire, A., & Forsyth, P. (2020). Leptomeningeal disease in melanoma patients: An update to treatment, challenges, and future directions. Pigment Cell & Melanoma Research, 33(4), 527–541.
Glitza Oliva, I. C., Ferguson, S. D., Bassett, R., Jr., Foster, A. P., John, I., Hennegan, T. D., Rohlfs, M., Richard, J., Iqbal, M., Dett, T., Lacey, C., Jackson, N., Rodgers, T., Phillips, S., Duncan, S., Haydu, L., Lin, R., Amaria, R. N., Wong, M. K., … Davies, M. A. (2023). Concurrent intrathecal and intravenous nivolumab in leptomeningeal disease: Phase 1 trial interim results. Nature Medicine, 29(4), 898–905.
Gondos, B., & King, E. B. (1976). Cerebrospinal fluid cytology: Diagnostic accuracy and comparison of different techniques. Acta Cytologica, 20(6), 542–547. Retrieved from http://europepmc.org/abstract/MED/186997
Janku, F., Huang, H. J., Claes, B., Falchook, G. S., Fu, S., Hong, D., Ramzanali, N. M., Nitti, G., Cabrilo, G., Tsimberidou, A. M., Naing, A., Piha‐Paul, S. A., Wheler, J. J., Karp, D. D., Holley, V. R., Zinner, R. G., Subbiah, V., Luthra, R., Kopetz, S., … Tsimberidou, A. M. (2016). BRAF mutation testing in cell‐free DNA from the plasma of patients with advanced cancers using a rapid, automated molecular diagnostics system. Molecular Cancer Therapeutics, 15(6), 1397–1404.
Le Rhun, E., Devos, P., Weller, J., Seystahl, K., Mo, F., Compter, A., Berghoff, A. S., Jlm, J., Wolpert, F., Rudà, R., Brandsma, D., van den Bent, M., Preusser, M., Herrlinger, U., & Weller, M. (2021). Prognostic validation anssd clinical implications of the EANO ESMO classification of leptomeningeal metastasis from solid tumors. Neuro‐Oncology, 23(7), 1100–1112.
Li, Y., Pan, W., Connolly, I. D., Reddy, S., Nagpal, S., Quake, S., & Gephart, M. H. (2016). Tumor DNA in cerebral spinal fluid reflects clinical course in a patient with melanoma leptomeningeal brain metastases. Journal of Neuro‐Oncology, 128, 93–100.
Pentsova, E. I., Shah, R. H., Tang, J., Boire, A., You, D., Briggs, S., Omuro, A., Lin, X., Fleisher, M., Grommes, C., Panageas, K. S., Meng, F., Selcuklu, S. D., Ogilvie, S., Distefano, N., Shagabayeva, L., Rosenblum, M., Lm, D. A., Viale, A., … Grommes, C. (2016). Evaluating cancer of the central nervous system through next‐generation sequencing of cerebrospinal fluid. Journal of Clinical Oncology, 34(20), 2404–2415.
Schreuer, M., Meersseman, G., Van Den Herrewegen, S., Jansen, Y., Chevolet, I., Bott, A., Wilgenhof, S., Seremet, T., Jacobs, B., Buyl, R., Maertens, G., & Neyns, B. (2016). Quantitative assessment of BRAF V600 mutant circulating cell‐free tumor DNA as a tool for therapeutic monitoring in metastatic melanoma patients treated with BRAF/MEK inhibitors. Journal of Translational Medicine, 14(1), 1–11. https://doi.org/10.1186/s12967‐016‐0852‐6
Seoane, J., De Mattos‐Arruda, L., Le Rhun, E., Bardelli, A., & Weller, M. (2019). Cerebrospinal fluid cell‐free tumour DNA as a liquid biopsy for primary brain tumours and central nervous system metastases. Annals of Oncology, 30(2), 211–218.
Steininger, J., Gellrich, F. F., Engellandt, K., Meinhardt, M., Westphal, D., Beissert, S., Meier, F., & Glitza Oliva, I. C. (2023). Leptomeningeal metastases in melanoma patients: An update on and future perspectives for diagnosis and treatment. International Journal of Molecular Sciences, 24(14), 11443.
Straathof, C. S., de Bruin, H. G., Dippel, D. W., & Vecht, C. J. (1999). The diagnostic accuracy of magnetic resonance imaging and cerebrospinal fluid cytology in leptomeningeal metastasis. Journal of Neurology, 246, 810–814.
Wang, N., Bertalan, M. S., & Brastianos, P. K. (2018). Leptomeningeal metastasis from systemic cancer: Review and update on management. Cancer, 124(1), 21–35.

Auteurs

Iris Dirven (I)

Department of Medical Oncology, Universitair Ziekenhuis Brussel (UZ Brussel)/Vrije Universiteit Brussel (VUB), Brussels, Belgium.

Manon Vounckx (M)

Department of Medical Oncology, Universitair Ziekenhuis Brussel (UZ Brussel)/Vrije Universiteit Brussel (VUB), Brussels, Belgium.

Jolien I Kessels (JI)

Department of Medical Oncology, Universitair Ziekenhuis Brussel (UZ Brussel)/Vrije Universiteit Brussel (VUB), Brussels, Belgium.

Justine Lauwyck (J)

Department of Medical Oncology, Algemeen Ziekenhuis Sint-Lucas, Brugge, Belgium.

Gil Awada (G)

Department of Medical Oncology, Universitair Ziekenhuis Brussel (UZ Brussel)/Vrije Universiteit Brussel (VUB), Brussels, Belgium.

Anne-Marie Vanbinst (AM)

Department of Radiology, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.

Bart Neyns (B)

Department of Medical Oncology, Universitair Ziekenhuis Brussel (UZ Brussel)/Vrije Universiteit Brussel (VUB), Brussels, Belgium.

Classifications MeSH